Is AR p.Gln67= (c.201G>A) pathogenic?

AR p.Gln67= (c.201G>A) is classified Likely benign in AR (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-19). Absent from gnomAD v4.1; Associated with Kennedy disease.

What condition is associated with AR p.Gln67= (c.201G>A)?

AR p.Gln67= (c.201G>A) is associated with Kennedy disease, androgen insensitivity syndrome (ClinVar).

How common is AR p.Gln67= (c.201G>A) in the general population?

AR p.Gln67= (c.201G>A) is absent from gnomAD v4.1 (gnomAD).

How is Kennedy disease inherited?

Typically X-linked recessive (Orphanet). A genetic counselor can assess individual risk for a family.

AR p.Gln67=

c.201G>A · rs2519600650 · VCV2947939

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Kennedy disease

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.82	GERP 0.76, phastCons 0.91
Overall
CADD	9.293	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: AR
Protein: p.Gln67=
Coding: c.201G>A
dbSNP: rs2519600650
Type: single nucleotide variant
Location: chrX:67545347 (GRCh38)

Full AR gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Kennedy disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: androgen insensitivity syndrome

For Kennedy disease (Orphanet):

Inheritance: X-linked recessive
Onset: Adult
Prevalence: <1 / 1 000 000 (Italy)

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ar-p-gln67 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown